A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv101e201



Internal ID20124988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71496264..71497573hg38UCSC Ensembl
chr10:73256021..73257330hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2738284, esv2738306
SamplesSSM027, SSM053, SSM061, SSM078, SSM088, SSM064, SSM031, SSM057, SSM001, SSM050, SSM062, SSM005, SSM021, SSM002, SSM063, SSM087, SSM004, SSM026, SSM049, SSM008, SSM058
Known GenesCDH23
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv101e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer